Canonical Allele Identifier: CA2616000797

Gene: PTS

Linked Data

• gnomAD v4: 11-112230282-C-CAACACAGAATCCACCACACTGGCTGAAAGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230283_112230284insACACAGAATCCACCACACTGGCTGAAAGAGA , CM000673.2:g.112230283_112230284insACACAGAATCCACCACACTGGCTGAAAGAGA	GRCh38
NC_000011.9:g.112101006_112101007insACACAGAATCCACCACACTGGCTGAAAGAGA , CM000673.1:g.112101006_112101007insACACAGAATCCACCACACTGGCTGAAAGAGA	GRCh37
NC_000011.8:g.111606216_111606217insACACAGAATCCACCACACTGGCTGAAAGAGA	NCBI36
NG_008743.1:g.8919_8920insACACAGAATCCACCACACTGGCTGAAAGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.186+53_186+54insACACAGAATCCACCACACTGGCTGAAAGAGA MANE Select	ENSP00000280362.3:n.186+53_186+54insACACAGAATCCACCACACTGGCTGA...
ENST00000280362.7:c.186+53_186+54insACACAGAATCCACCACACTGGCTGAAAGAGA	ENSP00000280362.3:n.186+53_186+54insACACAGAATCCACCACACTGGCTGA...
ENST00000524931.1:c.-19+53_-19+54insACACAGAATCCACCACACTGGCTGAAAGAGA	ENSP00000434688.1:n.-19+53_-19+54insACACAGAATCCACCACACTGGCTGA...
ENST00000525803.1:c.163+1610_163+1611insACACAGAATCCACCACACTGGCTGAAAGAGA	ENSP00000431750.1:n.163+1610_163+1611insACACAGAATCCACCACACTGG...
ENST00000527428.5:n.18_19insACACAGAATCCACCACACTGGCTGAAAGAGA
ENST00000528679.5:c.164-343_164-342insACACAGAATCCACCACACTGGCTGAAAGAGA	ENSP00000435895.1:n.164-343_164-342insACACAGAATCCACCACACTGGCT...
ENST00000531175.1:n.137+53_137+54insACACAGAATCCACCACACTGGCTGAAAGAGA
ENST00000531673.5:c.164-343_164-342insACACAGAATCCACCACACTGGCTGAAAGAGA	ENSP00000433469.1:n.164-343_164-342insACACAGAATCCACCACACTGGCT...
NM_000317.2:c.186+53_186+54insACACAGAATCCACCACACTGGCTGAAAGAGA	NP_000308.1:n.186+53_186+54insACACAGAATCCACCACACTGGCTGAAAGAGA...
XM_011542943.1:c.147+53_147+54insACACAGAATCCACCACACTGGCTGAAAGAGA	XP_011541245.1:n.147+53_147+54insACACAGAATCCACCACACTGGCTGAAAG...
NM_000317.3:c.186+53_186+54insACACAGAATCCACCACACTGGCTGAAAGAGA MANE Select	NP_000308.1:n.186+53_186+54insACACAGAATCCACCACACTGGCTGAAAGAGA...